MYBPC3 c.41A>G ;(p.K14R)

Variant ID: 11-47373041-T-C

NM_000256.3(MYBPC3):c.41A>G;(p.K14R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.

Genes
Columbres, Rod Carlo Agram RCA; Chin, Yue Y; Pratti, Sanjana S; Quinn, Colin C; Gonzalez-Cuyar, Luis F LF; Weiss, Michael M; Quintero-Rivera, Fabiola F; Kimonis, Virginia V
Publication Date: 2023-03-08

Variant appearance in text: MYBPC3: 41A>G; Lys14Arg
PubMed Link: 36980948
Variant Present in the following documents:
  • genes-14-00676.pdf
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: MYBPC3: 41A>G; Lys14Arg
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

The Journal Of Biological Chemistry
Suay-Corredera, Carmen C; Pricolo, Maria Rosaria MR; Herrero-Galán, Elías E; Velázquez-Carreras, Diana D; Sánchez-Ortiz, David D; García-Giustiniani, Diego D; Delgado, Javier J; Galano-Frutos, Juan José JJ; García-Cebollada, Helena H; Vilches, Silvia S; Domínguez, Fernando F; Molina, María Sabater MS; Barriales-Villa, Roberto R; Frisso, Giulia G; Sancho, Javier J; Serrano, Luis L; García-Pavía, Pablo P; Monserrat, Lorenzo L; Alegre-Cebollada, Jorge J
Publication Date: 2021-07

Variant appearance in text: MYBPC3: 41A>G
PubMed Link: 34097875
Variant Present in the following documents:
  • mmc1.pdf
  • mmc4.xlsx, sheet 1
View BVdb publication page